R. Newbury-Ecob

J. Hancox, R. Newbury-Ecob, K. Timothy, 2018, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Minna Männikkö, David Curtis, Peter Holmans, 2016, Nature Neuroscience.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jay F Rowland, M. Hurles, Soo-Mi Park, 2019, The Lancet.

Holt-Oram syndrome: a clinical genetic study.

R. Newbury-Ecob, I. Young, J. Raeburn, 1996, Journal of medical genetics.

Barth syndrome

M. Ashworth, R. Newbury-Ecob, R. Kelley, 2013, Orphanet Journal of Rare Diseases.

The relationship between perceived risk, thought intrusiveness and emotional well‐being in women receiving counselling for breast cancer risk in a family history clinic

R. Newbury-Ecob, G. Kent, K. Hosie, 2000 .

Thrombocytopenia-absent radius syndrome: a clinical genetic study

H. Brunner, R. Newbury-Ecob, R. Howell, 2002, Journal of medical genetics.

Atelosteogenesis type 2.

R. Newbury-Ecob, R Newbury-Ecob, 1998, Journal of medical genetics.

Syndrome of the month Atelosteogenesis type 2

R. Newbury-Ecob, 2022 .

Clinical and hematologic aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X)

J. Clayton-Smith, L. Kearney, A. Wilkie, 1995 .

S. Mehta, A. Offiah, K. Rosendahl, 2019, American journal of medical genetics. Part A.

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

J. Tolmie, A. Clarke, R. Newbury-Ecob, 2006, Journal of Medical Genetics.

Ileal bile acid malabsorption in colonic Crohn's disease

R. Newbury-Ecob, K. Hosie, A. M. Walters, 1994, The British journal of surgery.

Compound Heterozygous Triadin Mutation Causing Cardiac Arrest in Two Siblings

J. Hancox, R. Newbury-Ecob, A. G. Stuart, 2016, Pacing and clinical electrophysiology : PACE.

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.

A. Munnich, R. Newbury-Ecob, S. Lyonnet, 1996, American journal of human genetics.

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

W. Reardon, R. Newbury-Ecob, A. Rauch, 2003, Journal of medical genetics.

The face of Ulnar Mammary syndrome?

S. Mundlos, J. Tolmie, K. Prescott, 2011, European journal of medical genetics.

The phenotype of Floating–Harbor syndrome in 10 patients

S. Knight, R. Houlston, J. Hurst, 2010, American journal of medical genetics. Part A.

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

David I. Wilson, T. Strachan, A. Buckler, 1997, Nature Genetics.

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

J. Tolmie, D. Wieczorek, J. Goodship, 2011, European Journal of Human Genetics.

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

S. Mehta, E. Tobias, R. Newbury-Ecob, 2019, European journal of medical genetics.

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

R. Wanders, R. Newbury-Ecob, P. Brennan, 2010, Prenatal diagnosis.

Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation

R. Newbury-Ecob, Satoko Nishimoto, N. Butterfield, 2016, PLoS genetics.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American Journal of Medical Genetics. Part A.

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.

R. Newbury-Ecob, K. Shokrollahi, P. Lunt, 1999, The Journal of pediatrics.

Mosaic trisomy 8 and Townes–Brocks syndrome due to a novel SALL1 mutation in the same patient

R. Newbury-Ecob, J. Kohlhase, K. Greenhalgh, 2006, American Journal of Medical Genetics. Part A.

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review

A. Fry, K. Lachlan, R. Newbury-Ecob, 2020, American journal of medical genetics. Part A.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2018 .

Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft.

R. Newbury-Ecob, K. Low, 2012, Clinical dysmorphology.

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

H. Firth, S. Ellard, T. Roscioli, 2022, Human mutation.

Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5.

R. Newbury-Ecob, K. Low, C. Buxton, 2015, Clinical dysmorphology.

IFOSFAMIDE-INDUCED FANCONI SYNDROME

R. Newbury-Ecob, P. Barbor, V. Noble, 1989, The Lancet.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Congenital hereditary endothelial dystrophy associated with nail hypoplasia.

N. Galloway, R. Newbury-Ecob, J. Pitts, 1994, The British journal of ophthalmology.

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.

K. Devriendt, H. Van Esch, R. Newbury-Ecob, 2019, American journal of human genetics.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene

G. Mortier, R. Houlston, R. Newbury-Ecob, 2006, Clinical dysmorphology.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

L. Vissers, A. Hoischen, J. Veltman, 2011, Nature Genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

The mutation spectrum in Holt-Oram syndrome

G. Mortier, R. Newbury-Ecob, P. Jonveaux, 2000, Journal of medical genetics.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Expanding the genotypic spectrum of Perrault syndrome

S. Bhaskar, W. Yue, R. Newbury-Ecob, 2017, Clinical genetics.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Emily K. Mis, E. Zackai, D. Baralle, 2019, bioRxiv.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome

R. Pfundt, K. Heimdal, R. Hennekam, 2018, American journal of medical genetics. Part A.

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

D. Mackey, R. Newbury-Ecob, A. Markham, 2001, Human molecular genetics.

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

D. Goudie, T. Pippucci, R. Newbury-Ecob, 2020, Brain : a journal of neurology.

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

M. Weedon, S. Ellard, K. Paszkiewicz, 2011, American journal of human genetics.

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

A. Pagnamenta, Matteo P. Ferla, Jenny C. Taylor, 2019, Clinical genetics.

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11

M. Patton, A. Shaw, R. Newbury-Ecob, 2005, Journal of Human Genetics.

Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR

Ana Cvejic, Panos Deloukas, Matthew E Hurles, 2012, Nature Genetics.

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Charles E. Schwartz, Eva Morava, Denise Horn, 2003, Nature Genetics.

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.

Reinhard Ullmann, Stefan Mundlos, Lynn Greenhalgh, 2007, American journal of human genetics.

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

R. Pfundt, W. Chung, S. Küry, 2021, European Journal of Human Genetics.

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Marni J. Falk, Ellen F. Macnamara, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome

Hans van Bokhoven, Han G Brunner, Jeroen van Reeuwijk, 2005, Nature Genetics.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Siblings with Bohring-Opitz syndrome

R. Newbury-Ecob, S. Smithson, P. Lunt, 2003, Clinical dysmorphology.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

L. Vissers, R. Pfundt, B. D. de Vries, 2017, American journal of human genetics.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy

J. Trochu, I. Young, R. Newbury-Ecob, 2006, Circulation.

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.

C. A. Albers, W. Ouwehand, R. Newbury-Ecob, 2013, Current opinion in genetics & development.

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

Mutation in myosin heavy chain 6 causes atrial septal defect

Arnold Munnich, Leo S D Caves, Gloria Ribas, 2005, Nature Genetics.

Neutropenia in Barth syndrome: characteristics, risks, and management

M. Mackey, R. Newbury-Ecob, D. Dale, 2019, Current opinion in hematology.

Refined genotype–phenotype correlations in cases of chromosome 6p deletion syndromes

G. Mirza, J. Ragoussis, R. Newbury-Ecob, 2004, European Journal of Human Genetics.

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

A. Collins, R. Newbury-Ecob, A. Haeringen, 2019, European Journal of Human Genetics.

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Charles Lee, N. Jafari, A. Bassuk, 2008, Human Genetics.

SET de novo frameshift variants associated with developmental delay and intellectual disabilities

R. Newbury-Ecob, M. Splitt, A. Weber, 2018, European Journal of Human Genetics.

Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

W. Reardon, J. Hurst, R. Newbury-Ecob, 2016, Clinical dysmorphology.

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

A. Toutain, C. Wallgren‐Pettersson, J. Burn, 2002, European Journal of Human Genetics.

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

R. Newbury-Ecob, K. Low, James Smith, 2013, American journal of medical genetics. Part A.

Supernumerary Intestinal Muscle Coat in a Patient with Hirschsprung Disease/Mowat-Wilson Syndrome

R. Newbury-Ecob, P. Ramani, M. Leong, 2010, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays.

Richard S Houlston, J. Tolmie, R. Houlston, 2004, Nucleic acids research.

Holt–Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q

R. Newbury-Ecob, J. Terrett, G. Cross, 1994, Nature Genetics.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

S. Scherer, C. Cytrynbaum, R. Weksberg, 2022, Brain : a journal of neurology.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

K. Heimdal, Soo-Mi Park, H. Firth, 2017, Journal of Medical Genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants.

E. Behr, M. Sheppard, A. Wilde, 2018, Heart rhythm.

Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016 .

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

A. Wyatt, J. Crolla, R. Newbury-Ecob, 2008, Human mutation.

Pseudotail as a feature of microphthalmia with linear skin defects syndrome.

J. Crolla, R. Newbury-Ecob, M. Alberry, 2011, Clinical dysmorphology.

Hypophosphatemic rickets after ifosfamide treatment.

R. Newbury-Ecob, P. Barbor, 1989, BMJ.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

Dysmorphology of Barth syndrome

R. Newbury-Ecob, B. Tsai-Goodman, C. Steward, 2009, Clinical dysmorphology.

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

S. Robertson, S. Mansour, R. Newbury-Ecob, 2012, European Journal of Human Genetics.

‘Medicine’s Next Goldmine?’ The Implications of New Genetic Health Technologies for the Health Service

M. Calnan, E. Ferlie, P. Glasner, 2006, Medicine, health care, and philosophy.

Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?

S. Mansour, R. Newbury-Ecob, G. Brice, 2011, American journal of medical genetics. Part A.

New macular findings in individuals with biallelic KLHL7 gene mutation

R. Newbury-Ecob, L. Heng, S. Smithson, 2019, BMJ Open Ophthalmology.

SET de novo frameshift variants associated with developmental delay and intellectual disabilities

R. Newbury-Ecob, M. Splitt, A. Weber, 2018, European Journal of Human Genetics.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity

A. Green, S. Robertson, G. Mortier, 2006, American journal of medical genetics. Part A.

P.294 An unclassified congenital myopathy diagnosed as Snyder Robinson syndrome identified through the deciphering developmental disorders study

R. Newbury-Ecob, D. Study, A. Majumdar, 2017, Neuromuscular Disorders.

3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family.

R. Newbury-Ecob, J. Shield, J. Allen, 2001, Clinical dysmorphology.

in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

M. Weedon, S. Ellard, K. Paszkiewicz, 2011 .

The clinical spectrum of mitochondrial genetic disorders

R. Newbury-Ecob, A. Fryer, 2008 .

An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an incidental periventricular nodular heterotopia: a case report

R. Newbury-Ecob, M. Babiker, A. Murugan, 2017 .

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

J. Danesh, M. Daly, M. Hurles, 2016, bioRxiv.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

Manifesting heterozygosity in Norrie's disease?

R. Newbury-Ecob, G. Woodruff, I. Young, 1993, The British journal of ophthalmology.

The role of comparative genomic hybridisation in prenatal diagnosis

R. Newbury-Ecob, T. Davies, P. Soothill, 2001, BJOG : an international journal of obstetrics and gynaecology.

A case of probable Bohring-Opitz syndrome with medulloblastoma.

R. Newbury-Ecob, P. Lunt, R. Hastings, 2010, Clinical dysmorphology.

Hemiplegic cerebral palsy and the factor V Leiden mutation

G. Mortier, S. Uhrig, R. Newbury-Ecob, 2000, Journal of medical genetics.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Holt‐Oram syndrome: Is there a “face”?

J. Allanson, R. Newbury-Ecob, 2003, American journal of medical genetics. Part A.

Sex linked valvular dysplasia.

N. Rutter, R. Newbury-Ecob, J. Zuccollo, 1993, Journal of medical genetics.

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

K. Lachlan, R. Newbury-Ecob, H. N. Hall, 2023, Journal of Medical Genetics.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American journal of medical genetics. Part A.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.